Birth of healthy children after preimplantation diagnosis of β-thalassemia

Ze Xu Jiao, Guang Lun Zhuang, Can Quan Zhou, Yi Min Shu, Jie Li, Xiao Yan Liang

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background. Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia. Methods. A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS II 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed. Results. Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal, 3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD. Conclusions. We developed a single-cell based primer extension preamplification (PEP) -PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.

Original languageEnglish (US)
Pages (from-to)483-487
Number of pages5
JournalChinese medical journal
Issue number4
StatePublished - Apr 2004
Externally publishedYes


  • Gene amplification
  • Pregnancy
  • Preimplantation diagnosis
  • Thalassemia

ASJC Scopus subject areas

  • Medicine(all)


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